المؤلفون: HÃ¥rd, Joanna, Mold, Jeff E, Eisfeldt, Jesper, Tellgren-Roth, Christian, Häggqvist, Susana, Bunikis, Ignas, Contreras-Lopez, Orlando, Chin, Chen-Shan, Nordlund, Jessica, Rubin, Carl-Johan, Feuk, Lars, Michaëlsson, Jakob, Ameur, Adam

مصطلحات موضوعية: Genetics, Genetik

وصف الملف: application/pdf

العلاقة: Nature Communications, 2023, 14:1; orcid:0000-0003-0502-3693; orcid:0000-0001-8699-9959; orcid:0000-0001-8238-5052; orcid:0000-0003-2355-2919; orcid:0000-0001-6085-6749; http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-515623Test; PMID 37620373; ISI:001188258200002

الإتاحة: https://doi.org/10.1038/s41467-023-40898-3Test
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-515623Test

المؤلفون: Juul, Nikolai, Willacy, Oliver, Mamand, Doste R., Andaloussi, Samir El, Eisfeldt, Jesper, Chamorro, Clara I., Fossum, Magdalena

المساهمون: Novo Nordisk Fonden, Karolinska Institute

المصدر: Scientific Reports ; volume 13, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41598-023-40049-0Test
https://www.nature.com/articles/s41598-023-40049-0.pdfTest
https://www.nature.com/articles/s41598-023-40049-0Test

المؤلفون: Bilgrav Saether, Kristine, Nilsson, Daniel, Thonberg, Håkan, Tham, Emma, Ameur, Adam, Eisfeldt, Jesper, Lindstrand, Anna

المساهمون: Kalendar, Ruslan, Karolinska Institutet, Stockholms Läns Landsting, Vetenskapsrådet

المصدر: PLOS ONE ; volume 18, issue 7, page e0289346 ; ISSN 1932-6203

الإتاحة: https://doi.org/10.1371/journal.pone.0289346Test

المؤلفون: Ten Berk de Boer, Esmee, Bilgrav Saether, Kristine, Eisfeldt, Jesper

المساهمون: Karolinska Institutet

المصدر: Frontiers in Genetics ; volume 14 ; ISSN 1664-8021

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.3389/fgene.2023.1176626Test

المؤلفون: Garza Flores, Alexandra, Nordgren, Ida, Pettersson, Maria, Dias-Santagata, Dora, Nilsson, Daniel, Hammarsjö, Anna, Lindstrand, Anna, Batkovskyte, Dominyka, Wiggs, Janey, Walton, David S., Goldenberg, Paula, Eisfeldt, Jesper, Lin, Angela E., Lachman, Ralph S., Nishimura, Gen, Grigelioniene, Giedre

المصدر: Frontiers in Genetics ; volume 14 ; ISSN 1664-8021

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.3389/fgene.2023.1174046Test

المؤلفون: Schuy, Jakob, Eisfeldt, Jesper, Pettersson, Maria, Shahrokhshahi, Niloofar, Moslem, Mohsen, Nilsson, Daniel, Dahl, Niklas, Shahsavani, Mansoureh, Falk, Anna, Lindstrand, Anna

المصدر: Frontiers in Genetics. 12

مصطلحات موضوعية: ring chromosome 21, trisomy 21, RNA-Seq, induced pluripotent stem cells, neuroepithelial stem cells, microarray, genomic deletion, chromosomal abnormalities

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-469754Test
https://doi.org/10.3389/fgene.2021.803683Test
https://uu.diva-portal.org/smash/get/diva2:1644831/FULLTEXT01.pdfTest

المؤلفون: ten Berk de Boer, Esmee, Ameur, Adam, Bunikis, Ignas, Ek, Marlene, Stattin, Eva-Lena, Feuk, Lars, Eisfeldt, Jesper, Lindstrand, Anna

المصدر: Scientific Reports; 4/18/2024, Vol. 14 Issue 1, p1-8, 8p

مصطلحات موضوعية: DIGITAL technology, GENETIC testing, HAPLOTYPES, TELOMERES, CHROMOSOMAL translocation, CENTROMERE, SINOATRIAL node, NUCLEOTIDE sequencing

المؤلفون: Muurinen, Mari, Taylan, Fulya, Tournis, Symeon, Eisfeldt, Jesper, Balanika, Alexia, Vastardis, Heleni, Ala-Mello, Sirpa, Mäkitie, Outi, Costantini, Alice

المساهمون: CAMM - Research Program for Clinical and Molecular Metabolism, Children's Hospital, University of Helsinki, HUS Children and Adolescents, HUSLAB, Department of Medical and Clinical Genetics, Clinicum, Lastentautien yksikkö

مصطلحات موضوعية: AMER1, MOSAICISM, RUNX2, SKELETAL DYSPLASIA, WHOLE-GENOME SEQUENCING, OSTEOPATHIA STRIATA, CRANIAL SCLEROSIS, CLEIDOCRANIAL DYSPLASIA, SOMATIC MOSAICISM, RUNX2 GENE, MICRODELETION, REGION, CHILD, 3121 General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

العلاقة: This study was financially supported by the Swedish Research Council (2018-02645; 2020-00587), Konung Gustaf V:s och Drottning Victorias Frimurarestiftelse, the Stockholm County Council, the Novo Nordisk Foundation (21322), the Academy of Finland (277843), the Sigrid Juselius Foundation and the Folkhalsan Research Foundation. We thank the patients and their families for participation in this study. Dr Tournis would like to thank Dr Artemis Doulgeraki MD, PhD and Dr. Yolanda Gyftodimou MD, PhD (Department of Genetics, Institute of Child Health, Aghia Sophia Children's Hospital), Dr Christos Baltas MD, PhD (Department of Radiology, Athens General Hospital "George Gennimatas") and Dr Konstantinos Kokkinis MD (Department of Radiology, KAT General Hospital, Athens, Greece) for their valuable contribution in the evaluation of patient 1. Dr. Vastardis would like to thank Assoc. Prof. Apostolos Tsolakis and Dr. Dionysia Kroupi (Department of Orthodontics, School of Dentistry, National and Kapodistrian University of Athens) for their contribution in the diagnosis of this patient.; Muurinen , M , Taylan , F , Tournis , S , Eisfeldt , J , Balanika , A , Vastardis , H , Ala-Mello , S , Mäkitie , O & Costantini , A 2022 , ' Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass ' , JBMR plus , vol. 6 , no. 8 , 10660 . https://doi.org/10.1002/jbm4.10660Test; ORCID: /0000-0002-4547-001X/work/155651943; http://hdl.handle.net/10138/347370Test; f5ddfc1a-b1d9-4700-82c0-755d472f3107; 000820921800001

الإتاحة: http://hdl.handle.net/10138/347370Test

المؤلفون: Natarajan, Karthick, Eisfeldt, Jesper, Hammond, Maria, 1984, Laffita-Mesa, Jose Miguel, Patra, Kalicharan, Khoshnood, Behzad, Öijerstedt, Linn, Graff, Caroline

المصدر: Acta neuropathologica communications. 9(1)

مصطلحات موضوعية: Progranulin, Haploinsufficiency, Human genetic disorders, Neurodegenerative disorders, Nuclei multiplexing, CITE-Seq, Frontotemporal dementia, Reduced penetrance

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-455800Test
https://doi.org/10.1186/s40478-021-01234-2Test
https://uu.diva-portal.org/smash/get/diva2:1602088/FULLTEXT01.pdfTest

المؤلفون: Ameur, Adam, Dahlberg, Johan, Olason, Pall, Vezzi, Francesco, Karlsson, Robert, Martin, Marcel, Viklund, Johan, Kähäri, Andreas Kusalananda, Lundin, Pär, Che, Huiwen, Thutkawkorapin, Jessada, Eisfeldt, Jesper, Lampa, Samuel, Dahlberg, Mats, Hagberg, Jonas, Jareborg, Niclas, Liljedahl, Ulrika, Jonasson, Inger, Johansson, Åsa, Feuk, Lars, Lundeberg, Joakim, Syvänen, Ann-Christine, Lundin, Sverker, Nilsson, Daniel, Nystedt, Björn, Magnusson, Patrik K. E., Gyllensten, Ulf

المصدر: European Journal of Human Genetics. 25(11):1253-1260

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-148972Test
https://doi.org/10.1038/ejhg.2017.130Test